| Budget Amount *help |
¥16,900,000 (Direct Cost: ¥13,000,000、Indirect Cost: ¥3,900,000)
Fiscal Year 2016: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2015: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
Fiscal Year 2014: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
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| Outline of Final Research Achievements |
The purpose of the present research project was to clarify molecular mechanisms of abnormal intracellular localization of mutated human creatine transporter (CRT) for developing new therapeutic method for creatine deficiency syndromes. We analyzed G561R mutant of CRT, which we have been identified in Japanese patients. The mutation of G561R have been revealed to induce translocation of CRT from plasma membrane to intracellular membrane of the cultured cells. We have also identified that hCRT(G561R) had abnormal glycosylation. These results suggest that the functional impairment of hCRT(G561R) was caused by incomplete glycosylation due to misfolding during protein maturation, leading to changes of cellular localization.
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